ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.1130-16A>C

gnomAD frequency: 0.00105  dbSNP: rs187748315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516423 SCV001724699 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001556393 SCV001777967 likely benign not provided 2018-08-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001556393 SCV005212084 likely benign not provided criteria provided, single submitter not provided

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